SLC34A3

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SLC34A3
Identifiers
Aliases SLC34A3, HHRH, NPTIIc, solute carrier family 34 member 3, NaP2b
External IDs MGI: 2159410 HomoloGene: 15444 GeneCards: SLC34A3
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001177316
NM_001177317
NM_080877

NM_080854

RefSeq (protein)

NP_001170787
NP_001170788
NP_543153

NP_543130.2
NP_543130

Location (UCSC) Chr 9: 137.23 – 137.24 Mb Chr 2: 25.23 – 25.23 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Sodium-dependent phosphate transport protein 2C is a protein that in humans is encoded by the SLC34A3 gene.[3][4][5][6]

Function[edit]

SLC34A3 contributes to the maintenance of inorganic phosphate concentration at the kidney.[6]

Interactions[edit]

SLC34A3 has been shown to interact with PDZK1.[7]

Clinical Correlation[edit]

A mutation in the SLC34A3 gene has been known to cause the autosomal recessive condition hereditary hypophophatemic rickets with hypercalciuria. This gene is correlated closely with SLC34A1, an analogue sodium phosphate cotransporter protein. Symptoms include renal phosphate wasting in addition to increase levels of 1,25-dihydroxyvitamin D (yields the hypercalcuria).[4]

See also[edit]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ Segawa H, Kaneko I, Takahashi A, Kuwahata M, Ito M, Ohkido I, Tatsumi S, Miyamoto K (May 2002). "Growth-related renal type II Na/Pi cotransporter". The Journal of Biological Chemistry. 277 (22): 19665–72. doi:10.1074/jbc.M200943200. PMID 11880379. 
  4. ^ a b Lorenz-Depiereux B, Benet-Pages A, Eckstein G, Tenenbaum-Rakover Y, Wagenstaller J, Tiosano D, Gershoni-Baruch R, Albers N, Lichtner P, Schnabel D, Hochberg Z, Strom TM (February 2006). "Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3". American Journal of Human Genetics. 78 (2): 193–201. doi:10.1086/499410. PMC 1380229Freely accessible. PMID 16358215. 
  5. ^ Bergwitz C, Roslin NM, Tieder M, Loredo-Osti JC, Bastepe M, Abu-Zahra H, Frappier D, Burkett K, Carpenter TO, Anderson D, Garabedian M, Sermet I, Fujiwara TM, Morgan K, Tenenhouse HS, Juppner H (February 2006). "SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis". American Journal of Human Genetics. 78 (2): 179–92. doi:10.1086/499409. PMC 1380228Freely accessible. PMID 16358214. 
  6. ^ a b "Entrez Gene: SLC34A3 solute carrier family 34 (sodium phosphate), member 3". 
  7. ^ Gisler SM, Pribanic S, Bacic D, Forrer P, Gantenbein A, Sabourin LA, Tsuji A, Zhao ZS, Manser E, Biber J, Murer H (November 2003). "PDZK1: I. a major scaffolder in brush borders of proximal tubular cells". Kidney International. 64 (5): 1733–45. doi:10.1046/j.1523-1755.2003.00266.x. PMID 14531806. 

Further reading[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.